DNA sequencing, which means determination of sequencing of DNA building blocks (nucleotides) belonging to an individual’s genetic code helped genetics studies to advance and has become a technique that is used for testing genetic abnormalities.
To determine genetic variations, Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) methods are now more often used in areas of health and related researches. Both methods based on new technologies called New Generation Sequencing (NGS) that provides rapid sequencing of large amounts of DNA.
With the “Human Genome Project”, we now know that human genome is coded with 3 billions of DNA and composed of 20.000 – 25.000 genes that synthesize proteins. A more interactive relationship has been established between genetics and medicine.
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With NGS (New Generation Sequencing), it is possible to sequence exons which form 1% of whole geneome and which `are thought to be the parts that give instructions for human DNA’s protein synthesis. Whole exons in genome is called exome and to sequence them is called Whole Exome Sequencing.
This method determines the variations in any gene’s protein coding area rather than only a few genes. Most of the mutations causing diseases occur in exons. For this reason, Whole Exome Sequencing is thought to be an efficient method to identify such mutations.
DNA variations except exons cause genetic abnormalities by affecting gene activity and protein synthesis. With Whole Genome Sequencing method, whole nucleotides in human DNA are sequenced and variations in an any part of the genome are identified.
Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) are valuable methods for researchers besides their clinical utility. The progressing study of exome and genome sequences can determine if new genetic variations are related with health conditions and this will help diagnosis in the future.